Noninvasive prenatal testing (NIPT) is a method used to determine the risk for the fetus being born with certain chromosomal abnormalities, such as trisomy 21, trisomy 18 and trisomy 13.[1][2][3] This testing analyzes small DNA fragments that circulate in the blood of a pregnant woman.[4] Unlike most DNA found in the nucleus of a cell, these fragments are not found within the cells, instead they are free-floating, and so are called cell free fetal DNA (cffDNA). These fragments usually contain less than 200 DNA building blocks (base pairs) and arise when cells die, and their contents, including DNA, are released into the bloodstream. cffDNA derives from placental cells and is usually identical to fetal DNA. Analysis of cffDNA from placenta provides the opportunity for early detection of certain chromosomal abnormalities without harming the fetus.[5]
^Dondorp, Wybo; de Wert, Guido; Bombard, Yvonne; Bianchi, Diana W.; Bergmann, Carsten; Borry, Pascal; Chitty, Lyn S.; Fellmann, Florence; Forzano, Francesca; Hall, Alison; Henneman, Lidewij (2015). "Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening". European Journal of Human Genetics. 23 (11): 1438–1450. doi:10.1038/ejhg.2015.57. ISSN 1476-5438. PMC 4613463. PMID 25782669.
^Goldwaser, Tamar; Klugman, Susan (2018). "Cell-free DNA for the detection of fetal aneuploidy". Fertility and Sterility. 109 (2): 195–200. doi:10.1016/j.fertnstert.2017.12.019. ISSN 0015-0282. PMID 29447662.
^Rose, Nancy C.; Kaimal, Anjali J.; Dugoff, Lorraine; Norton, Mary E.; Medicin, American College of Obstetricians and Gynecologists’ Committee on Practice Bulletins-ObstetricsCommittee on GeneticsSociety for Maternal-Fetal (2020). "Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin, Number 226". Obstetrics & Gynecology. 136 (4): e48–e69. doi:10.1097/AOG.0000000000004084. ISSN 0029-7844. PMID 32804883.
^Skrzypek, Hannah; Hui, Lisa (2017-07-01). "Noninvasive prenatal testing for fetal aneuploidy and single gene disorders". Best Practice & Research Clinical Obstetrics & Gynaecology. 42: 26–38. doi:10.1016/j.bpobgyn.2017.02.007. ISSN 1521-6934. PMID 28342726.
^"What is noninvasive prenatal testing (NIPT) and what disorders can it screen for?: MedlinePlus Genetics". medlineplus.gov. Retrieved 2021-06-27.
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